Diagnosis and treatment of fanconi's anemia

• Main Authors: SU TIN TIN, DUNCAN TOD
• Format: Patent
• Language: English
• Published: 30.03.2006
• Subjects: AGRICULTURE; ANIMAL HUSBANDRY; BEER; BIOCHEMISTRY; CARE OF BIRDS, FISHES, INSECTS; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; DERIVATIVES THEREOF; ENZYMOLOGY; FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIREDCHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERSFROM A RACEMIC MIXTURE; FISHING; FORESTRY; HUMAN NECESSITIES; HUNTING; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES; MEASURING; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; NEW BREEDS OF ANIMALS; NUCLEIC ACIDS; NUCLEOSIDES; NUCLEOTIDES; ORGANIC CHEMISTRY; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; SPIRITS; SUGARS; TESTING; TRAPPING; VINEGAR; WINE

The novel FLJ11011 gene encoding a human ubiquitin-conjugating (E2) enzyme as well as gene fragments, coding sequences, mRNA variants and encoded proteins are disclosed. Additionally, methods of diagnosing and treating a patient that has or is suspected of having Fanconi's anemia or increased susceptibility to cancer or diminished capability of DNA repair. Additionally, methods of identifying compounds with the potential to treat or ameliorate Fanconi's Anemia are provided.